Papers
RefSeq ID
Protein change
DNA change
1–12 of 132 variants
NM_152490.5
p.Q475*
c.1423C>T
NM_152490.5
p.G247E
c.740G>A
NM_152490.5
p.D327N
c.979G>A
NM_152490.5
p.R292P
c.875G>C
NM_152490.5
p.V252G
c.755T>G
NM_152490.5
p.V268M
c.802G>A
NM_152490.5
p.G274_F275insFs
c.822_823dupTT
NM_152490.5
p.R87Splc
c.261-2A>G
NM_152490.5
p.D356insFs
c.1068dupT
NM_152490.5
p.S25fs
c.73_74fs
NM_152490.5
p.L17_S25insFs
c.51_73dup23
NM_152490.5
p.V103fs
c.307_308fs